Phenotype #0000324728

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434371
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease
Diagnosis/Definite	NPC2
Phenotype details	12y-neurological symptoms (tremor, speech problems); 17y6m-severe dystonia, mental retardation, no hepatosplenomegaly
Inheritance	Familial, autosomal recessive
Age/Examination	17y6m (17 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-23 20:54:35 +01:00 (CET)
Date last edited	N/A

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